ZAR1L
Chr 13zygote arrest 1 like
Also known as: Z3CXXC7, ZAR2
This protein binds maternal mRNAs and regulates their storage, translation and degradation during oocyte maturation, likely through formation of phase-separated compartments. Mutations in ZAR1L cause autosomal recessive oocyte maturation defects and female infertility. The gene shows moderate constraint against loss-of-function variants, consistent with its essential role in early reproductive development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
101 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 46 | 0 | 46 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 40 | 5 | 0 | 45 |
Likely Benign | 0 | 3 | 0 | 0 | 3 |
Benign | 0 | 0 | 4 | 0 | 4 |
| Total | 0 | 43 | 55 | 0 | 98 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ZAR1L · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools